Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome

Fragile X syndrome(FXS) is most common congenital hereditary disease of low intelligence after Down Syndrome. Its main pathogenic gene is Fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism and Fragile X-related primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fmr1 gene transcription leads to the absence of fragile X mental retardation protein (FMRP). How to relieve or cure disorders associated with FXS has also become a clinically disturbing problem. Previous studies have recently shown that Long noncoding RNAs (lncRNA) contribute to the pathogenesis. And it has identified that several lncRNAs including FMR4, FMR5 and FMR6 contribute to developing FXPOI/FXTAS, originating from the FMR1 gene locus. FMR4 is a product of RNA polymerase II and can regulate the expression of relevant genes during differentiation of human neural precursor cells. FMR5 is a sense-oriented transcript while FMR6 is an antisense lncRNA produced by the 3’UTR of FMR1, being likely to contribute to developing FXPOI, and it overlaps exons 15–17 of FMR1 as well as two microRNA binding sites. Additionally, BC1 can bind FMRP to form inhibitory complex and lncRNA TUG1 also can control axonal development by directly interacting with FMRP through modulating SnoN–Ccd1 pathway. Therefore, these lncRNAs provide pharmaceutical targets and novel biomarkers. This review will 1) describe the clinical manifestations an...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research

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Publication date: Available online 14 June 2019Source: Neuroscience LettersAuthor(s): Junjie Zhao, Ming ZhangAbstractTraumatic brain injury affects a number of individuals per year and is a major cause of worldwide death and disability. Yet, its pathophysiological mechanism remains unclear. It is well-known that glial cells, including microglia and astrocytes, are activated and involved in tissue damage and repair in the peri-lesion regions after traumatic brain injury; however, global glial responses are rarely reported. The purpose of this study was to investigate the global activation of microglia and astrocytes 1 day a...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
This study included 65 patients with lumbar spondylolisthesis, who underwent either open transpedicular screw fixation (OTPSF) with posterior lumbar interbody fusion (PLIF) (OTPSF group, n = 33) or PPSF with reduction system (PPSFr group, n = 32) after PLIF. The slippage degree (SD); the intervertebral disc height (IDH); lumbar lordosis (LL); and segmental angle (SA) were measured on the follow-up simple lateral radiographs. For pain and functional assessment in patients, visual analogue scale (VAS) scores for low back pain and leg pain, and Oswestry Disability Index (ODI) scores were measured. SA (P 
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Conclusions: The newly developed HIPER-500® for high-frequency deep heat therapy showed similar effects to those of SonoStim® for relieving pain and improving physical performance in the patients of this study. HIPER-500® may be a useful modality for treating shoulder pain and improving physical activity in patients with shoulder disease. PMID: 31191789 [PubMed - in process]
Source: Pain Research and Management - Category: Anesthesiology Authors: Tags: Pain Res Manag Source Type: research
Authors: Kubota M Abstract Recent evidence suggests that hyperuricemia is an important condition in children and adolescents, particularly in association with noncommunicable diseases. This review aims to summarize our current understanding of this condition in pediatric patients. An analysis of serum uric acid reference values in a healthy population indicates that they increase gradually with age until adolescence, with differences between the sexes arising at about 12 years of age. This information should be taken into consideration when defining hyperuricemia in studies. Gout is extremely rare in childre...
Source: Journal of Nutrition and Metabolism - Category: Nutrition Tags: J Nutr Metab Source Type: research
CONCLUSION: The PEI showed fair content validity, construct validity and internal consistency. However, the scale needs further development to improve measurement of change. PMID: 31198975 [PubMed - as supplied by publisher]
Source: Journal of Rehabilitation Medicine - Category: Rehabilitation Tags: J Rehabil Med Source Type: research
I just finished my sophomore year and want to apply next summer, so I don’t want to take a gap year. Here’s what EC’s I’m currently doing: Volunteering: Hospital volunteer - 60 hrs. &4 mos. (250 hrs. &1yr. 4 mos. by next summer) Animal shelter - 30 hrs. &1 mo. (150 hrs. &1 yr. by next summer) Nonprofit org that serves adults w. intellectual disabilities - 10 hrs. &1 mo. (150 hrs. &1 yr. by next summer) Shadowing: About to start shadowing a PCP and will get 10 hours there. I’m... Am I on track in terms of EC’s?
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pre-Medical - MD Source Type: forums
This study utilized data from The National Longitudinal Transition Study-2 (NLTS-2), a 10-year longitudinal dataset that includes high school students with various disabilities. The study proposed a theoretical framework for sense of school community through maximized school assets and minimized school challenges. The study sample included a total of 1,180 high school students, 11th (n = 443) and 12th (n = 737) graders who completed surveys. Multiple linear regression analysis revealed that a combination of school assets and school challenges of high school experience predicted sense of school c...
Source: Journal of Prevention and Intervention in the Community - Category: International Medicine & Public Health Tags: J Prev Interv Community Source Type: research
Publication date: Available online 13 June 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Atiqah Azhari, Farouq Azizan, Gianluca Esposito
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
Conclusions:Children with DD had better PAP adherence expressed as percentage of nights used than TD children. Hours of usage on nights used at 3 and 6 months were similar between groups and improved over time. Higher income and titration at or before 6 months were predictive of adherence in all children. These findings indicate that children with DD can successfully wear PAP.Citation:Kang EK, Xanthopoulos MS, Kim JY, Arevalo C, Shults J, Beck SE, Marcus CL, Tapia IE. Adherence to positive airway pressure for the treatment of obstructive sleep apnea in children with developmental disabilities.J Clin Sleep Med. 2019;15(6):915–921.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research
Conclusions: Use of the genome-wide array screening method can improve the detection rate of CNVs, reveal chromosomal abnormalities that have not been well characterized by cytology, and provide a new way to locate genes for patients with the ID phenotype. However, interpretation of CNVs remains a major challenge, which is why we believe that publicly shared data on CNVs and phenotypes can create a rich database of information.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome variation profiling by SNP array SNP genotyping by SNP array Homo sapiens Source Type: research
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